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IME Research Colloquia-Amanda Tapia
Thursday, October 8, 2020 @ 3:00 pm - 4:30 pm
Research Colloquia – Amanda Tapia, Doctoral Student in Biostatistics
Title: More data more problems: R Shiny to the rescue in interpreting a large-scale genetic association study
Abstract: Visualizations are a critical component to understanding and interpreting analytical results across a broad range of disciplines. In genetic association studies, large-scale analyses may result in hundreds of statistically significant signals across the genome, and employing visualizations to summarize and interpret these findings is particularly important. They can help us to better understand how genetic variability in a population affects complex disease risk, contribute to our understanding of the biological mechanisms underlying the observed relationships between genetic variability and disease risk, and can help us to identify the genes responsible for important biological functions. Thus, in order to assist in the interpretation of our own study, we created an R Shiny application to interactively visualize our results and integrate them with detailed data from multiple genetic sources, one genomic location at a time. The R Shiny application enables us to see the many challenges that often arise when we zoom into and seek to interpret results at specific regions of the genome. For example, one may encounter regions with multiple genes which have correlated expression levels or differences between gene expression reference panels. We introduce the R Shiny application as an excellent tool for presenting results in a broadly approachable, interactive, and visual format. This application could be modified for other genetic association studies or other large-scale analyses.